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Updated: Oct 23, 2025

Endobronchial Ultrasound-guided Intratumoral Injection of Cisplatin for the Treatment of Isolated Mediastinal Recurrence of Lung Cancer
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A case of metastatic NUT carcinoma with prolonged response on gemcitabine and nab-paclitaxel

Shetal A Patel1, Bart Singer2, Colette Shen3

  • 1Division of Oncology Lineberger Comprehensive Cancer Center at the University of North Carolina Chapel Hill North Carolina USA.

Clinical Case Reports
|August 25, 2021
PubMed
Abstract

Insights

NUT carcinoma, a rare cancer, was identified with a novel YAP1-NUTM1 fusion. Treatment with gemcitabine and nab-paclitaxel showed a partial response, suggesting a new therapeutic option for this aggressive malignancy.

Area of Science:

  • Oncology
  • Genomics
  • Molecular Biology

Background:

  • NUT carcinoma is an aggressive cancer linked to NUTM1 gene alterations.
  • Current treatment strategies for NUT carcinoma lack consensus.
  • This study presents a unique case of NUT carcinoma with a non-canonical gene fusion.

Observation:

  • A patient presented with sinus pressure, a sinonasal mass, and lung metastases.
  • Initial tests confirmed NUT carcinoma but did not find a NUTM1 translocation.
  • Whole transcriptomic RNA sequencing was performed on the tumor.

Findings:

  • A YAP1-NUTM1 fusion was identified via transcriptomic sequencing.
  • An in vitro drug screen informed treatment selection.
  • The patient received gemcitabine and nab-paclitaxel, achieving a partial response lasting 9 months.

Implications:

  • Unbiased transcriptomic sequencing can uncover novel NUTM1 fusion partners.
  • Gemcitabine and nab-paclitaxel demonstrate tolerability and efficacy.
  • This combination may represent a new treatment approach for NUT carcinoma.
Keywords:
NUT carcinomaNUTM1 fusionchemotherapynext‐generation sequencing

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